Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12904513G>A , CM000686.2:g.12904513G>A | GRCh38 |
| NC_000024.9:g.15016424G>A , CM000686.1:g.15016424G>A | GRCh37 |
| NC_000024.8:g.13525818G>A | NCBI36 |
| NG_012831.1:g.5406G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360160.8:c.-3+99G>A | ENSP00000353284.4:n.-3+99G>A | |
| ENST00000454054.5:c.-80+99G>A | ENSP00000398953.1:n.-80+99G>A | |
| NM_001122665.2:c.-3+99G>A | NP_001116137.1:n.-3+99G>A | |
| NM_001122665.3:c.-3+99G>A | NP_001116137.1:n.-3+99G>A |